QUANTITATIVE PROTON MAGNETIC-RESONANCE SPECTROSCOPY OF CHILDHOOD ADRENOLEUKODYSTROPHY

Cerebral metabolic disturbances in patients with childhood adrenoleuko dystrophy (ALD) were assessed by quantitative localized proton MRS. Pa tient monitoring by follow-up MRS studies served to identify putative markers for disease onset and progression. Whereas normal-appearing wh ite matter of neurologically asymptomatic patients is characterized by slightly elevated concentrations of choline-containing compounds (Cho ), an increase of both Cho and myo-inositol (Ins) seems to indicate th e onset of demyelination. Markedly elevated concentrations of Cho, Ins , and glutamine in affected white matter reflect active demyelination and glial proliferation. A simultaneous reduction of the concentration s of N-acetylaspartate and glutamate is consistent with neuronal damag e or loss. The observation of elevated lactate is in line with inflamm ation and/or macrophage infiltration. The more severe metabolic distur bances in cerebral ALD correspond to progressive demyelination, neuroa xonal loss and gliosis leading to clinical deterioration and eventuall y death. The detection of MRS abnormalities before the onset of neurol ogical symptoms may help in the selection of patients for bone marrow transplantation (BMT). Stabilization and partial reversal of metabolic abnormalities is demonstrated in a patient after BMT.